Definition

Facioscapulohumeral muscular dystrophy is muscle weakness and loss of muscle tissue that gets worse over time.

See also: Muscular dystrophy

Alternative Names

Landouzy-Dejerine muscular dystrophy

Causes, incidence, and risk factors

Facioscapulohumeral muscular dystrophy affects the upper body. It is not the same as Duchenne muscular dystrophy and Becker muscular dystrophy, which affect the lower body.

Facioscapulohumeral muscular dystrophy is a genetic disorder. It appears in both men and women and may develop in a child if either parent carries the gene for the disorder. In 10 to 30% of cases, the parents do not carry the genes.

Facioscapulohumeral muscular dystrophy affects about 5 out of 100,000 people. It affects men and women equally.

Symptoms

Men often have more symptoms than women.

Facioscapulohumeral muscular dystrophy mainly affects the face, shoulder, and upper arm muscles. However, it can also affect muscles around the pelvis, hips, and lower leg.

Symptoms can appear after birth, but often they do not appear until age 10 – 26. However, it is not uncommon for symptoms to appear much later in life. In some cases, symptoms never develop.

Symptoms are usually mild and very slowly become worse. Muscle weakness of the face is common, and may include:

Eyelid drooping

Inability to whistle

Decreased facial expression

Depressed or angry facial expression

Difficulty pronouncing words

Shoulder muscle weakness causes deformities such as pronounced shoulder blades (scapular winging) and sloping shoulders. The person has difficulty raising the arms because of shoulder and arm muscle weakness.

Weakness of the lower legs is possible as the disorder gets worse. The weakness can be severe enough to interfere with walking. A small percentage of people become wheelchair-bound.

Hearing loss and abnormal heart rhythms may occur, but are rare.

Signs and tests

A physical examination will show weakness of the face and shoulder muscles. High blood pressure may be noted but is usually mild. An eye exam may show changes in the blood vessels in the back of the eye.

Tests that may be done include:

Creatine kinase test (may be slightly high)

DNA testing

Electrocardiogram (EKG)

EMG (electromyography)

Fluorescein angiography

Genetic testing of chromosome 4

Hearing tests

Muscle biopsy (may confirm the diagnosis)

Treatment

There is no known cure for facioscapulohumeral muscular dystrophy. Treatments are given to control symptoms and improve quality of life. Activity is encouraged. Inactivity such as bedrest can make the muscle disease worse.